Incidental Mutation 'IGL01375:Cd38'
| ID |
78686 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd38
|
| Ensembl Gene |
ENSMUSG00000029084 |
| Gene Name |
CD38 antigen |
| Synonyms |
Cd38-rs1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
44026153-44069714 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44060939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 172
(M172V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030964]
|
| AlphaFold |
P56528 |
| PDB Structure |
Crystal structure of the truncated extracellular domain of mouse CD38 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030964
AA Change: M172V
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000030964
Gene: ENSMUSG00000029084
AA Change: M172V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
Pfam:Rib_hydrolayse
|
59 |
300 |
2.9e-104 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a non-lineage-restricted, type II transmembrane glycoprotein that synthesizes and hydrolyzes cyclic adenosine 5'-diphosphate-ribose, an intracellular calcium ion mobilizing messenger. The release of soluble protein and the ability of membrane-bound protein to become internalized indicate both extracellular and intracellular functions for the protein. This protein has an N-terminal cytoplasmic tail, a single membrane-spanning domain, and a C-terminal extracellular region with four N-glycosylation sites. Knockout mice deficient for this gene display altered humoral immune responses. In addition, knockout mice exhibit higher locomotor activity and defects in nurturing and social behaviors. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene has resulted in an impaired antibody response to T cell dependent antigens and disrupted glucose-dependent insulin secretion. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anxa2 |
C |
T |
9: 69,390,301 (GRCm39) |
R68* |
probably null |
Het |
| Apc |
C |
T |
18: 34,446,707 (GRCm39) |
S1167L |
probably damaging |
Het |
| Aqp2 |
A |
G |
15: 99,479,983 (GRCm39) |
T149A |
possibly damaging |
Het |
| Asb8 |
T |
C |
15: 98,039,190 (GRCm39) |
E70G |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,278,454 (GRCm39) |
I172V |
possibly damaging |
Het |
| Dync2i1 |
G |
T |
12: 116,193,296 (GRCm39) |
A552E |
possibly damaging |
Het |
| Dyrk2 |
A |
G |
10: 118,696,592 (GRCm39) |
V222A |
probably damaging |
Het |
| Ephb6 |
T |
A |
6: 41,592,845 (GRCm39) |
|
probably benign |
Het |
| Fbxo15 |
T |
C |
18: 84,976,404 (GRCm39) |
S48P |
possibly damaging |
Het |
| Gsdma3 |
T |
C |
11: 98,520,767 (GRCm39) |
|
probably null |
Het |
| H2bl1 |
A |
G |
13: 99,120,650 (GRCm39) |
|
probably benign |
Het |
| Htr1d |
A |
G |
4: 136,170,484 (GRCm39) |
T238A |
probably benign |
Het |
| Kcnh3 |
G |
A |
15: 99,124,874 (GRCm39) |
W108* |
probably null |
Het |
| Kdsr |
A |
T |
1: 106,655,424 (GRCm39) |
Y272N |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,308,910 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,067,200 (GRCm39) |
V747M |
probably damaging |
Het |
| Or10g3 |
A |
G |
14: 52,609,865 (GRCm39) |
I215T |
probably damaging |
Het |
| Or4a67 |
A |
G |
2: 88,597,810 (GRCm39) |
V283A |
probably benign |
Het |
| Pfn3 |
T |
A |
13: 55,562,641 (GRCm39) |
R113S |
possibly damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,521,803 (GRCm39) |
I123T |
possibly damaging |
Het |
| Plec |
A |
T |
15: 76,060,640 (GRCm39) |
I3121N |
probably damaging |
Het |
| Prepl |
C |
T |
17: 85,379,419 (GRCm39) |
G336D |
possibly damaging |
Het |
| Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,631 (GRCm39) |
T249A |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,787,262 (GRCm39) |
F1276I |
possibly damaging |
Het |
| Serpina3f |
G |
A |
12: 104,186,735 (GRCm39) |
V434I |
unknown |
Het |
| Slc25a12 |
T |
C |
2: 71,138,394 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,327,593 (GRCm39) |
C642R |
probably damaging |
Het |
| Slit2 |
C |
T |
5: 48,439,056 (GRCm39) |
|
probably benign |
Het |
| Tasor |
A |
G |
14: 27,162,120 (GRCm39) |
R159G |
probably damaging |
Het |
| Tgfbr3 |
A |
G |
5: 107,284,837 (GRCm39) |
V604A |
probably benign |
Het |
| Tnfrsf1b |
T |
C |
4: 144,951,986 (GRCm39) |
Y126C |
probably damaging |
Het |
| Traf4 |
T |
C |
11: 78,050,908 (GRCm39) |
N416S |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,024,733 (GRCm39) |
I1132T |
possibly damaging |
Het |
| Vps8 |
T |
A |
16: 21,378,122 (GRCm39) |
Y642* |
probably null |
Het |
|
| Other mutations in Cd38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01691:Cd38
|
APN |
5 |
44,060,928 (GRCm39) |
splice site |
probably benign |
|
|
IGL02585:Cd38
|
APN |
5 |
44,067,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
paradiso
|
UTSW |
5 |
44,060,927 (GRCm39) |
splice site |
probably null |
|
|
IGL02796:Cd38
|
UTSW |
5 |
44,063,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0496:Cd38
|
UTSW |
5 |
44,026,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0855:Cd38
|
UTSW |
5 |
44,060,927 (GRCm39) |
splice site |
probably null |
|
|
R1621:Cd38
|
UTSW |
5 |
44,058,866 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2353:Cd38
|
UTSW |
5 |
44,065,353 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2366:Cd38
|
UTSW |
5 |
44,060,932 (GRCm39) |
splice site |
probably benign |
|
|
R2860:Cd38
|
UTSW |
5 |
44,058,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2861:Cd38
|
UTSW |
5 |
44,058,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4342:Cd38
|
UTSW |
5 |
44,026,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4343:Cd38
|
UTSW |
5 |
44,026,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4344:Cd38
|
UTSW |
5 |
44,026,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4953:Cd38
|
UTSW |
5 |
44,064,887 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5007:Cd38
|
UTSW |
5 |
44,063,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5371:Cd38
|
UTSW |
5 |
44,026,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5699:Cd38
|
UTSW |
5 |
44,057,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Cd38
|
UTSW |
5 |
44,063,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6945:Cd38
|
UTSW |
5 |
44,065,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7129:Cd38
|
UTSW |
5 |
44,067,651 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7825:Cd38
|
UTSW |
5 |
44,058,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Cd38
|
UTSW |
5 |
44,058,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7855:Cd38
|
UTSW |
5 |
44,058,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Cd38
|
UTSW |
5 |
44,057,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8133:Cd38
|
UTSW |
5 |
44,058,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Cd38
|
UTSW |
5 |
44,058,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Cd38
|
UTSW |
5 |
44,058,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9558:Cd38
|
UTSW |
5 |
44,057,792 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-11-05 |
Incidental Mutation